Mutation Details for c.3022delG
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cDNA Name
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c.3022delG
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Protein Name
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p.Val1008SerfsX15
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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3154delG
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Other Details
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This mutation was detected by DGGE using chemical clamps and identified by direct sequencing. It is not found in 100 other non-[delta]F508 CF chromosomes and 100 non-CF chromosomes tested. The patient has R553X on the other chromosomes, a pancreatic deficiency and moderate lung disease.
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Contributors
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Bienvenu T,
Bousquet S,
Herbulot C,
Beldjord C,
kaplan JC
1995-08-14
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Institute
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Groupe Hospitalier
Cochin, Paris
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Submitted Phenotype Details
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The mutation was found in a CF female patient (31y) diagnosed when 3 years old. She is PI, has mild pulmonary symptoms (FEV1 97%) and sweat chloride 122 mmol/l. (pers. corr. Bienvenu)
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Reference
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Bienvenu et al. (NL #67)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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